Biomedical Statistics and Informatics Software Packages

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Structural Variations (SVs) and Copy Number Variations (CNVs) are the major source of genomic variations. CNVnator is a tool for Copy Number Variation (CNV) discovery and genotyping  from depth-of-coverage by mapped reads.  It accepts .bam files as input and generates CNVs calls in less than 10 hours of calculations. The source code and extended descriptions […]